Linked Data
ClinVar Variation Id:
1288111
ClinVar RCV Id:
RCV001707086
dbSNP Id:
rs1871042
ExAC:
11:67353844 C / T
gnomAD v2:
11-67353844-C-T
gnomAD v3:
11-67586373-C-T
gnomAD v4:
11-67586373-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586373C>T , CM000673.2:g.67586373C>T | GRCh38 |
| NC_000011.9:g.67353844C>T , CM000673.1:g.67353844C>T | GRCh37 |
| NC_000011.8:g.67110420C>T | NCBI36 |
| NG_012075.1:g.7779C>T , LRG_723:g.7779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-16C>T | ENSP00000381604.1:n.337-16C>T | |
| ENST00000398606.10:c.445-16C>T MANE Select | ENSP00000381607.3:n.445-16C>T | |
| ENST00000646888.1:c.*161-16C>T | ENSP00000494477.1:n.*161-16C>T | |
| ENST00000398603.5:c.337-16C>T | ENSP00000381604.1:n.337-16C>T | |
| ENST00000398606.7:c.445-16C>T | ENSP00000381607.3:n.445-16C>T | |
| ENST00000467591.1:n.556-16C>T | ||
| ENST00000494593.1:n.1401C>T | ||
| ENST00000495996.1:c.171-16C>T | ENSP00000484686.1:n.171-16C>T | |
| ENST00000498765.5:c.508-16C>T | ||
| NM_000852.3:c.445-16C>T , LRG_723t1:c.445-16C>T | NP_000843.1:n.445-16C>T | |
| NM_000852.4:c.445-16C>T MANE Select | NP_000843.1:n.445-16C>T |